(Q18041912)

English

POMGNT1

protein-coding gene in the species Homo sapiens

GNTI.2
GnT I.2
LGMD2O
MEB
MGAT1.2
gnT-I.2
protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
RP76
LGMDR15

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Statements

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Protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)

1 reference

6 July 2017

autosomal recessive limb-girdle muscular dystrophy type 2O

2 references

13 August 2019

Open Targets Platform

retrieved

24 August 2023

reference URL

https://platform.opentargets.org/evidence/ENSG00000085998/MONDO_0013161

based on heuristic

inferred from an Open Targets association score over 0.7

chromosome

human chromosome 1

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

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genome assembly GRCh38

Genome assembly GRCh37

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46654354

Genome assembly GRCh37

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46188683

genome assembly GRCh38

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46220305

genome assembly GRCh38

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46685977

Genome assembly GRCh37

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1p34.1

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15 May 2022

9806

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15 May 2022

PBB GE POMGNT1 217944 at fs.png
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9806

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9806

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9806

1

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000085998

left ventricle

series ordinal

2

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000085998

right lobe of thyroid gland

series ordinal

3

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000085998

left lobe of thyroid gland

series ordinal

4

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000085998

gastrocnemius muscle

series ordinal

5

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000085998

nucleus accumbens

series ordinal

6

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000085998

prefrontal cortex

series ordinal

7

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000085998

right adrenal gland

series ordinal

8

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000085998

tibial nerve

series ordinal

9

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000085998

caudate nucleus

series ordinal

10

1 reference

19 April 2022

https://bgee.org/bgee15_0/gene/ENSG00000085998

exact match

http://identifiers.org/ncbigene/55624

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

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15 May 2022

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15 May 2022

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15 May 2022

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10 April 2022

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10 April 2022

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15 May 2022

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Ensembl transcript ID

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15 May 2022

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15 May 2022

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Online Mendelian Inheritance in Man

19 August 2019

1 reference

inferred by common HGNC mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

15 June 2023

(Q18041912)

POMGNT1

Statements

Identifiers

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